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巴尔得-别德尔综合征相关蛋白2抗体
半岛bd体育手机客户端 介绍
靶标:
BBS2 半岛bd体育手机客户端 别名: BBS; RP74; BBS2; Bardet-Biedl syndrome 2; Bardet-Biedl syndrome 2; Bardet-Biedl syndrome 2 protein; 巴尔得-别德尔综合征相关蛋白2; 背景信息:
This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014],
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